NEW SYNDROME - AUTOSOMAL-DOMINANT MICROCEPHALY AND RADIOULNAR SYNOSTOSIS

Citation
L. Giuffre et al., NEW SYNDROME - AUTOSOMAL-DOMINANT MICROCEPHALY AND RADIOULNAR SYNOSTOSIS, American journal of medical genetics, 51(3), 1994, pp. 266-269
Citations number
5
Categorie Soggetti
Genetics & Heredity
ISSN journal
01487299
Volume
51
Issue
3
Year of publication
1994
Pages
266 - 269
Database
ISI
SICI code
0148-7299(1994)51:3<266:NS-AMA>2.0.ZU;2-Q
Abstract
To date, the combination of microcephaly and radio-ulnar synostosis ha s not been recognized as a distinct clinical and genetic entity. We re port on 4 familial cases with this previously undescribed combination of defects, showing autosomal dominant inheritance (Fig 1). (C) 1994 W iley-Liss, Inc.